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For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals: Assess the risk of a genetic disorder by researching a family's history, evaluating … or medical researcher - who specializes in your disease or disorder. A medical geneticist has completed a fellowship or … referred to a physician who is a specialist in the type of disorder you have. For example, if a genetic test is positive …
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
… in an effort to modify a gene that can cause the blood disorder beta thalassemia . The researchers only allowed the … Editing, Gene Editing, DNA Editing, Gene Therapy, Genetic Disorder, Genetic Disease, CRISPR-Cas9, CRISPR … Patients …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … Factor V Leiden is the name of … DVT … Factor V Leiden thrombophilia is an inherited disorder of blood clotting. … Genetic Disorders …
Media Availability
New research provides a better understanding of some of the genetic and cellular changes in pathways and processes involved in Autism Spectrum Disorder.
… are likely to contribute to the risk for autism spectrum disorder (ASD) - a jump from the nine genes implicated in … may help lead to potential therapies. ASD, a complex disorder that affects one in 68 children in the United … in pathways and processes involved in Autism Spectrum Disorder. … Autism, Autism Spectrum Disorder, ASD, genes and …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… Disease, Genetic Disease, Genetic Condition, Genetic Disorder, Genetic Counseling, Genetic Testing, Rare Disease … …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children. … Genetic Testing, Genetic Disorder, Alleles, Inheritance, Family Health History … … performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, … Research Institute have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, … with undiagnosed inflammatory diseases, paying particular attention to a set of over 800 genes related to the process …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … Only about one in 100,000 to … 200,000 babies are born with GM1 gangliosidosis, a genetic disorder caused by alterations in the DNA of a single gene, … documenting the symptom progression of children with the disorder. That’s when she met Jojo.  Over the years, Dr. …